Canonical Allele Identifier: CA913188346

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 922607
• ClinVar RCV Id: RCV002379703 ; RCV001843139
• dbSNP Id: rs1848632145

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588817del , CM000673.2:g.2588817del	GRCh38
NC_000011.9:g.2610047del , CM000673.1:g.2610047del	GRCh37
NC_000011.8:g.2566623del	NCBI36
NG_008935.1:g.148827del , LRG_287:g.148827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.999del	ENSP00000434560.2:p.Leu334TrpfsTer13
ENST00000646564.2:c.816del	ENSP00000495806.2:p.Leu273TrpfsTer13
ENST00000155840.12:c.1356del MANE Select	ENSP00000155840.2:p.Leu453TrpfsTer13
ENST00000335475.6:c.975del	ENSP00000334497.5:p.Leu326TrpfsTer13
ENST00000646564.1:c.462del	ENSP00000495806.1:p.Leu155TrpfsTer13
ENST00000155840.9:c.1356del	ENSP00000155840.2:p.Leu453TrpfsTer13
ENST00000335475.5:c.975del	ENSP00000334497.5:p.Leu326TrpfsTer13
NM_000218.2:c.1356del , LRG_287t1:c.1356del	NP_000209.2:p.Leu453TrpfsTer13
NM_181798.1:c.975del , LRG_287t2:c.975del	NP_861463.1:p.Leu326TrpfsTer13
NM_000218.3:c.1356del MANE Select	NP_000209.2:p.Leu453TrpfsTer13